Brain Malformations

2022 ◽  
pp. 717-745
Author(s):  
Catherine Fallet-Bianco
Keyword(s):  
Brain Malformations

scholarly journals De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

2020 ◽  
Vol 11 (1) ◽  
pp. 21
Author(s):  
Claudia Brogna ◽  
Valentina Milano ◽  
Barbara Brogna ◽  
Lara Cristiano ◽  
Giuseppe Rovere ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Partial Trisomy ◽  
Cerebral Vasculitis ◽  
Radiological Findings ◽  
Cerebral Lesions ◽  
Brain Malformations ◽  
Vermian Hypoplasia ◽  
Callosal Dysgenesis ◽  
First Time

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.

scholarly journals Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

2014 ◽  
Vol 75 (5) ◽  
pp. 782-787 ◽  
Author(s):  
Ingrid E. Scheffer ◽  
Sarah E. Heron ◽  
Brigid M. Regan ◽  
Simone Mandelstam ◽  
Douglas E. Crompton ◽  
...  
Keyword(s):  
Focal Epilepsy ◽  
Mammalian Target Of Rapamycin ◽  
Target Of Rapamycin ◽  
Brain Malformations

Treatment of epilepsy in severely disabled children with bilateral brain malformations

2009 ◽  
Vol 277 (1-2) ◽  
pp. 37-49 ◽  
Author(s):  
Yoshiaki Saito ◽  
Kenji Sugai ◽  
Eiji Nakagawa ◽  
Hiroshi Sakuma ◽  
Hirofumi Komaki ◽  
...  
Keyword(s):  
Disabled Children ◽  
Treatment Of Epilepsy ◽  
Brain Malformations

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

2021 ◽  
Author(s):  
Kazuki Watanabe ◽  
Mitsuko Nakashima ◽  
Satoko Kumada ◽  
Hideaki Mashimo ◽  
Mikako Enokizono ◽  
...  
Keyword(s):  
Literature Review ◽  
De Novo ◽  
Case Reports ◽  
Brain Malformations

Epilepsy phenotypes associated with MAP1B-related brain malformations

2021 ◽  
Vol 23 (2) ◽  
pp. 392-396
Author(s):  
Ravindra Arya ◽  
Christine Spaeth ◽  
Wenying Zhang
Keyword(s):  
Brain Malformations

scholarly journals Apert syndrome: factors involved in the cognitive development

2005 ◽  
Vol 63 (4) ◽  
pp. 963-968 ◽  
Author(s):  
Adriano Yacubian-Fernandes ◽  
Aristides Palhares ◽  
Alcir Giglio ◽  
Roberto C. Gabarra ◽  
Silvio Zanini ◽  
...  
Keyword(s):  
Cognitive Development ◽  
Family Environment ◽  
Mental Development ◽  
Apert Syndrome ◽  
Social Classification ◽  
Brain Malformations ◽  
Time Of Operation ◽  
Parents Education

Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classification of families and parents’ education. Eighteen patients with Apert syndrome were studied, whose ages were between 14 and 322 months. Brain abnormalities were observed in 55.6% of them. The intelligence quotient or developmental quotient values observed were between 45 and 108. Mental development was related to the quality of family environment and parents’ education. Mental development was not correlated to brain malformation or age at time of operation. In conclusion, quality of family environment was the most significant factor directly involved in mental development of patients with Apert syndrome.

Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome

2012 ◽  
Vol 158A (8) ◽  
pp. 1823-1831 ◽  
Author(s):  
Ghada M.H. Abdel-Salam ◽  
Mohamed S. Abdel-Hamid ◽  
Sahar N. Saleem ◽  
Mahmoud K.H. Ahmed ◽  
Mahmoud Issa ◽  
...  
Keyword(s):  
Brain Malformations ◽  
Primordial Dwarfism

scholarly journals TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity

2018 ◽  
Vol 28 (8) ◽  
pp. 1227-1243 ◽  
Author(s):  
Jayne Aiken ◽  
Jeffrey K Moore ◽  
Emily A Bates
Keyword(s):  
Motor Activity ◽  
Neuronal Migration ◽  
Ectopic Expression ◽  
Missense Mutations ◽  
Microtubule Cytoskeleton ◽  
Tubulin Genes ◽  
Dynein Motor ◽  
Brain Malformations ◽  
Developing Mouse Brain ◽  
And Migration

Abstract The microtubule cytoskeleton supports diverse cellular morphogenesis and migration processes during brain development. Mutations in tubulin genes are associated with severe human brain malformations known as ‘tubulinopathies’; however, it is not understood how molecular-level changes in microtubule subunits lead to brain malformations. In this study, we demonstrate that missense mutations affecting arginine at position 402 (R402) of TUBA1A α-tubulin selectively impair dynein motor activity and severely and dominantly disrupt cortical neuronal migration. TUBA1A is the most commonly affected tubulin gene in tubulinopathy patients, and mutations altering R402 account for 30% of all reported TUBA1A mutations. We show for the first time that ectopic expression of TUBA1A-R402C and TUBA1A-R402H patient alleles is sufficient to dominantly disrupt cortical neuronal migration in the developing mouse brain, strongly supporting a causal role in the pathology of brain malformation. To isolate the precise molecular impact of R402 mutations, we generated analogous R402C and R402H mutations in budding yeast α-tubulin, which exhibit a simplified microtubule cytoskeleton. We find that R402 mutant tubulins assemble into microtubules that support normal kinesin motor activity but fail to support the activity of dynein motors. Importantly, the level of dynein impairment scales with the expression level of the mutant in the cell, suggesting a ‘poisoning’ mechanism in which R402 mutant α-tubulin acts dominantly by populating microtubules with defective binding sites for dynein. Based on our results, we propose a new model for the molecular pathology of tubulinopathies that may also extend to other tubulin-related neuropathies.

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